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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:torsion dystonia 2
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Accession:DOID:0090038 term browser browse the term
Definition:A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35. (DO)
Synonyms:exact_synonym: DYT2;   Dystonia Musculorum Deformans 2;   Dystonia Musculorum Deformans Type 2;   torsion dystonia 2, autosomal recessive;   torsion dystonia 2, autosomal recessive type
 primary_id: MESH:C538006
 alt_id: OMIM:224500;   RDO:0003935
 xref: NCI:C123415;   ORDO:99657
For additional species annotation, visit the Alliance of Genome Resources.


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torsion dystonia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpca hippocalcin ISO ClinVar Annotator: match by term: Dystonia 2, torsion, autosomal recessive
ClinVar Annotator: match by term: Torsion dystonia 2
ClinVar
OMIM
PMID:6115727 PMID:14694054 PMID:25677497 PMID:25799108 NCBI chr 5:147,295,124...147,305,757
Ensembl chr 5:147,294,820...147,303,346
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          Nervous System Heredodegenerative Disorders 1915
            Dystonia Musculorum Deformans 4
              torsion dystonia 2 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            movement disease 1094
              Dyskinesias 797
                dystonia 132
                  generalized dystonia 6
                    Dystonia Musculorum Deformans 4
                      torsion dystonia 2 1
paths to the root